10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Hyperparathyroidism - Primary vs Secondary vs Tertiary 
Lab Comparison:
 • Primary Hyperparathyroidism: ↑→PTH, ↑Calcium, ↑Vitamin D,
Hyperparathyroidism: ↑→PTH, ↑Calcium ... Hyperparathyroidism: ↑PTH, ↓→Calcium ... Bone/joint pain Psychiatric ... Hyperparathyroidism #diagnosis #endocrinology ... Secondary #Tertiary #pathophysiology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Wolfram syndrome (WS) is a form of monogenic diabetes that typically presents with diabetes mellitus in
Wolfram syndrome ... hypogonadism, infertility ... neuropathy, dementia, psychiatric ... WOLFRAMSYNDROME #SUMMARY #ENDOCRINOLOGY
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... with Kleefstra Syndrome ... and behavioural/psychiatric ... PatientInfo #Peds #Pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Causes of Hypocalcemia by Clinical Cause

Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... hypocalcemia - Genetic ... defects in calcium-sensing ... Malabsorption syndrome ... Differential #Diagnosis #Endocrinology
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... Calcium, VitD) and ... Complications #pathophysiology ... signs #symptoms #psychiatry
Causes of Hypocalcemia - Differential Diagnosis
Decreased calcium absorption
 • Vitamin D deficiency
    -
Diagnosis Decreased calcium ... Malabsorption Syndromes ... Increased calcium ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology